| | | Single nucleotide variant (missense variant) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Single nucleotide variant (splice donor variant) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Microsatellite (frameshift variant) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Deletion (frameshift variant) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Insertion (frameshift variant) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Indel (nonsense) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Single nucleotide variant (splice donor variant) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Single nucleotide variant (intron variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | LOC129995449, SQSTM1 (R59fs) | Duplication (intron variant +1 more) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Deletion (frameshift variant) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset +2 more | |
| | MRNIP, SQSTM1 (E313* +1 more) | Single nucleotide variant (nonsense +1 more) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Single nucleotide variant (missense variant) | not specified +6 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +7 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 3 +7 more | |
| | | Single nucleotide variant (nonsense) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more | |
| | | Microsatellite (frameshift variant) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Single nucleotide variant (synonymous variant) | not specified +7 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | |